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Updated: Jul 18, 2025

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血液细胞形态学的全基因组关联研究确定了涉及疾病病因的细胞蛋白

Parsa Akbari1,2,3,4, Dragana Vuckovic2,4,5, Luca Stefanucci6,7,8

  • 1British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, Strangeways Research Laboratory, University of Cambridge, Wort's Causeway, Cambridge, CB1 8RN, UK.

Nature communications
|August 18, 2023
PubMed
概括

这项研究分析了影响血液细胞细胞内结构的遗传因素,揭示了2172个关联. 这些发现将遗传变异与免疫和血栓性疾病联系起来,确定了诸如FOG2之类的关键调节者.

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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